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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for MADD |
 Gene summary |
| Gene information | Gene symbol | MADD | Gene ID | 8567 |
| Gene name | MAP kinase activating death domain | |
| Synonyms | DENN|IG20|RAB3GEP | |
| Cytomap | 11p11.2 | |
| Type of gene | protein-coding | |
| Description | MAP kinase-activating death domain proteinRab3 GDP/GTP exchange factordifferentially expressed in normal and neoplastic cellsinsulinoma glucagonoma clone 20 | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context | - 22678883(DENN/MADD/IG20 Alternative Splicing Changes and Cell Death in Alzheimer's Disease) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| MADD | GO:0032483 | regulation of Rab protein signal transduction | 20937701 |
| MADD | GO:2001236 | regulation of extrinsic apoptotic signaling pathway | 11577081 |
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Gene structures and expression levels for MADD |
| Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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ENSG00000110514
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
 |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| PG | UP | ENST00000407859.7 | MADD-210:protein_coding:MADD | 5.874924e+00 | 5.749731e+00 | 2.161925e-03 | 2.527042e-02 |
| CB | DOWN | ENST00000311027.9 | MADD-201:protein_coding:MADD | 8.723423e+00 | -6.734852e+00 | 2.223477e-05 | 2.069777e-04 |
| TC | DOWN | ENST00000395344.7 | MADD-205:protein_coding:MADD | 4.651205e+01 | -1.108061e+00 | 4.050800e-05 | 7.849160e-04 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for MADD |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
 |
| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_116517 | chr11 | 47292543:47292596:47293883:47293983:47295496:47295567 | 47293883:47293983 |
| exon_skip_126668 | chr11 | 47324471:47324577:47328658:47328704:47329046:47329072 | 47328658:47328704 |
| exon_skip_131701 | chr11 | 47286433:47286534:47288968:47289027:47289391:47289493 | 47288968:47289027 |
| exon_skip_137740 | chr11 | 47308591:47308699:47309281:47309401:47309507:47309612 | 47309281:47309401 |
| exon_skip_144578 | chr11 | 47282813:47282969:47284178:47284281:47284375:47284394 | 47284178:47284281 |
| exon_skip_146697 | chr11 | 47324471:47324577:47328658:47328704:47329046:47329210 | 47328658:47328704 |
| exon_skip_155299 | chr11 | 47290616:47290816:47292543:47292596:47293883:47293983 | 47292543:47292596 |
| exon_skip_159401 | chr11 | 47285478:47285590:47286433:47286534:47289391:47289493 | 47286433:47286534 |
| exon_skip_165759 | chr11 | 47284941:47285194:47285451:47285590:47286433:47286534 | 47285451:47285590 |
| exon_skip_178960 | chr11 | 47269677:47269750:47273827:47273976:47274563:47274997 | 47273827:47273976 |
| exon_skip_182680 | chr11 | 47289391:47289493:47289867:47290053:47290149:47290299 | 47289867:47290053 |
| exon_skip_186938 | chr11 | 47290610:47290816:47292543:47292596:47293883:47293983 | 47292543:47292596 |
| exon_skip_191991 | chr11 | 47308591:47308699:47308980:47309042:47309281:47309299 | 47308980:47309042 |
| exon_skip_196518 | chr11 | 47311732:47311842:47315220:47315327:47323671:47323835 | 47315220:47315327 |
| exon_skip_207803 | chr11 | 47324471:47324577:47326544:47326552:47326738:47326807 | 47326544:47326552 |
| exon_skip_20928 | chr11 | 47282381:47282616:47282813:47282969:47284178:47284281 | 47282813:47282969 |
| exon_skip_2237 | chr11 | 47309507:47309612:47311732:47311842:47315220:47315282 | 47311732:47311842 |
| exon_skip_235714 | chr11 | 47290610:47290816:47293883:47293983:47295496:47295522 | 47293883:47293983 |
| exon_skip_242460 | chr11 | 47269693:47269906:47273827:47273976:47274563:47274726 | 47273827:47273976 |
| exon_skip_253611 | chr11 | 47282813:47282969:47284178:47284281:47284375:47284565 | 47284178:47284281 |
| exon_skip_269228 | chr11 | 47292543:47292596:47293883:47293983:47295496:47295522 | 47293883:47293983 |
| exon_skip_275933 | chr11 | 47285545:47285590:47286433:47286534:47289391:47289493 | 47286433:47286534 |
| exon_skip_279772 | chr11 | 47286437:47286534:47288968:47289027:47289391:47289493 | 47288968:47289027 |
| exon_skip_293520 | chr11 | 47308591:47308699:47308980:47309042:47309281:47309401 | 47308980:47309042 |
| exon_skip_41012 | chr11 | 47285451:47285590:47286433:47286534:47288968:47289027 | 47286433:47286534 |
| exon_skip_4925 | chr11 | 47285478:47285590:47286433:47286534:47288968:47289027 | 47286433:47286534 |
| exon_skip_59800 | chr11 | 47290616:47290816:47293883:47293983:47295496:47295567 | 47293883:47293983 |
| exon_skip_60747 | chr11 | 47284946:47285065:47285451:47285590:47289391:47289493 | 47285451:47285590 |
| exon_skip_71689 | chr11 | 47270156:47270246:47273827:47273976:47274563:47274606 | 47273827:47273976 |
| exon_skip_76606 | chr11 | 47290610:47290816:47293883:47293983:47295496:47295567 | 47293883:47293983 |
| exon_skip_77391 | chr11 | 47324471:47324577:47326738:47326807:47328658:47328704 | 47326738:47326807 |
| exon_skip_84645 | chr11 | 47269677:47269750:47273827:47273976:47274563:47274606 | 47273827:47273976 |
| exon_skip_8878 | chr11 | 47309507:47309612:47311732:47311842:47315220:47315327 | 47311732:47311842 |
| exon_skip_9013 | chr11 | 47269376:47269644:47273827:47273976:47274563:47274726 | 47273827:47273976 |
| exon_skip_99643 | chr11 | 47269684:47269750:47273827:47273976:47274563:47274726 | 47273827:47273976 |
| exon_skip_99725 | chr11 | 47270156:47270246:47273827:47273976:47274563:47274726 | 47273827:47273976 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_186938 | MSBB_PG | 5.660448e-01 | 6.856364e-01 | -1.195916e-01 | 2.344276e-03 |
| exon_skip_293520 | MSBB_PG | 6.685088e-01 | 8.352941e-01 | -1.667853e-01 | 2.990082e-02 |
| exon_skip_77391 | MSBB_PG | 3.684906e-01 | 2.100000e-01 | 1.584906e-01 | 7.427585e-08 |
| exon_skip_279772 | Mayo_CB | 7.356098e-01 | 6.079221e-01 | 1.276877e-01 | 3.049452e-08 |
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Open reading frame (ORF) annotation in the exon skipping event for MADD |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000311027 | 47273827 | 47273976 | 5CDS-5UTR |
| ENST00000311027 | 47282813 | 47282969 | Frame-shift |
| ENST00000311027 | 47284178 | 47284281 | Frame-shift |
| ENST00000311027 | 47285451 | 47285590 | Frame-shift |
| ENST00000311027 | 47289867 | 47290053 | Frame-shift |
| ENST00000311027 | 47293883 | 47293983 | Frame-shift |
| ENST00000311027 | 47326738 | 47326807 | Frame-shift |
| ENST00000311027 | 47286433 | 47286534 | In-frame |
| ENST00000311027 | 47288968 | 47289027 | In-frame |
| ENST00000311027 | 47292543 | 47292596 | In-frame |
| ENST00000311027 | 47308980 | 47309042 | In-frame |
| ENST00000311027 | 47311732 | 47311842 | In-frame |
| ENST00000311027 | 47315220 | 47315327 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000311027 | 47273827 | 47273976 | 5CDS-5UTR |
| ENST00000311027 | 47284178 | 47284281 | Frame-shift |
| ENST00000311027 | 47326738 | 47326807 | Frame-shift |
| ENST00000311027 | 47288968 | 47289027 | In-frame |
| ENST00000311027 | 47292543 | 47292596 | In-frame |
| ENST00000311027 | 47308980 | 47309042 | In-frame |
| ENST00000311027 | 47311732 | 47311842 | In-frame |
| ENST00000311027 | 47315220 | 47315327 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000311027 | 47273827 | 47273976 | 5CDS-5UTR |
| ENST00000311027 | 47282813 | 47282969 | Frame-shift |
| ENST00000311027 | 47284178 | 47284281 | Frame-shift |
| ENST00000311027 | 47285451 | 47285590 | Frame-shift |
| ENST00000311027 | 47289867 | 47290053 | Frame-shift |
| ENST00000311027 | 47293883 | 47293983 | Frame-shift |
| ENST00000311027 | 47326738 | 47326807 | Frame-shift |
| ENST00000311027 | 47286433 | 47286534 | In-frame |
| ENST00000311027 | 47288968 | 47289027 | In-frame |
| ENST00000311027 | 47292543 | 47292596 | In-frame |
| ENST00000311027 | 47308980 | 47309042 | In-frame |
| ENST00000311027 | 47311732 | 47311842 | In-frame |
| ENST00000311027 | 47315220 | 47315327 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MADD |
p-ENSG00000110514_img4.png |
| Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000311027 | 6007 | 1647 | 47286433 | 47286534 | 2718 | 2818 | 851 | 884 |
| ENST00000311027 | 6007 | 1647 | 47288968 | 47289027 | 2820 | 2878 | 885 | 904 |
| ENST00000311027 | 6007 | 1647 | 47292543 | 47292596 | 3528 | 3580 | 1121 | 1138 |
| ENST00000311027 | 6007 | 1647 | 47308980 | 47309042 | 4035 | 4096 | 1290 | 1310 |
| ENST00000311027 | 6007 | 1647 | 47311732 | 47311842 | 4325 | 4434 | 1386 | 1423 |
| ENST00000311027 | 6007 | 1647 | 47315220 | 47315327 | 4436 | 4542 | 1423 | 1459 |
| Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000311027 | 6007 | 1647 | 47288968 | 47289027 | 2820 | 2878 | 885 | 904 |
| ENST00000311027 | 6007 | 1647 | 47292543 | 47292596 | 3528 | 3580 | 1121 | 1138 |
| ENST00000311027 | 6007 | 1647 | 47308980 | 47309042 | 4035 | 4096 | 1290 | 1310 |
| ENST00000311027 | 6007 | 1647 | 47311732 | 47311842 | 4325 | 4434 | 1386 | 1423 |
| ENST00000311027 | 6007 | 1647 | 47315220 | 47315327 | 4436 | 4542 | 1423 | 1459 |
| Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000311027 | 6007 | 1647 | 47286433 | 47286534 | 2718 | 2818 | 851 | 884 |
| ENST00000311027 | 6007 | 1647 | 47288968 | 47289027 | 2820 | 2878 | 885 | 904 |
| ENST00000311027 | 6007 | 1647 | 47292543 | 47292596 | 3528 | 3580 | 1121 | 1138 |
| ENST00000311027 | 6007 | 1647 | 47308980 | 47309042 | 4035 | 4096 | 1290 | 1310 |
| ENST00000311027 | 6007 | 1647 | 47311732 | 47311842 | 4325 | 4434 | 1386 | 1423 |
| ENST00000311027 | 6007 | 1647 | 47315220 | 47315327 | 4436 | 4542 | 1423 | 1459 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q8WXG6 | 851 | 884 | 1 | 1647 | Chain | ID=PRO_0000278138;Note=MAP kinase-activating death domain protein;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O08873 |
| Q8WXG6 | 851 | 884 | 858 | 858 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q8WXG6 | 851 | 884 | 862 | 862 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q8WXG6 | 885 | 904 | 885 | 904 | Alternative sequence | ID=VSP_052294;Note=In isoform 3%2C isoform 5%2C isoform 6 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11577081,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:1548 |
| Q8WXG6 | 885 | 904 | 1 | 1647 | Chain | ID=PRO_0000278138;Note=MAP kinase-activating death domain protein;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O08873 |
| Q8WXG6 | 1121 | 1138 | 1121 | 1139 | Alternative sequence | ID=VSP_052295;Note=In isoform 2%2C isoform 3%2C isoform 4%2C isoform 5%2C isoform 6 and isoform 8. ELWNKHQEVKKQKALEKQR->G;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11577081,ECO:000030 |
| Q8WXG6 | 1121 | 1138 | 1 | 1647 | Chain | ID=PRO_0000278138;Note=MAP kinase-activating death domain protein;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O08873 |
| Q8WXG6 | 1290 | 1310 | 1291 | 1311 | Alternative sequence | ID=VSP_052296;Note=In isoform 2%2C isoform 3%2C isoform 4%2C isoform 5%2C isoform 6 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11577081,ECO:0000303|PubMed:147020 |
| Q8WXG6 | 1290 | 1310 | 1 | 1647 | Chain | ID=PRO_0000278138;Note=MAP kinase-activating death domain protein;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O08873 |
| Q8WXG6 | 1386 | 1423 | 1 | 1647 | Chain | ID=PRO_0000278138;Note=MAP kinase-activating death domain protein;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O08873 |
| Q8WXG6 | 1386 | 1423 | 1340 | 1415 | Domain | Note=Death;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8WXG6 | 1423 | 1459 | 1 | 1647 | Chain | ID=PRO_0000278138;Note=MAP kinase-activating death domain protein;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O08873 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q8WXG6 | 885 | 904 | 885 | 904 | Alternative sequence | ID=VSP_052294;Note=In isoform 3%2C isoform 5%2C isoform 6 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11577081,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:1548 |
| Q8WXG6 | 885 | 904 | 1 | 1647 | Chain | ID=PRO_0000278138;Note=MAP kinase-activating death domain protein;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O08873 |
| Q8WXG6 | 1121 | 1138 | 1121 | 1139 | Alternative sequence | ID=VSP_052295;Note=In isoform 2%2C isoform 3%2C isoform 4%2C isoform 5%2C isoform 6 and isoform 8. ELWNKHQEVKKQKALEKQR->G;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11577081,ECO:000030 |
| Q8WXG6 | 1121 | 1138 | 1 | 1647 | Chain | ID=PRO_0000278138;Note=MAP kinase-activating death domain protein;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O08873 |
| Q8WXG6 | 1290 | 1310 | 1291 | 1311 | Alternative sequence | ID=VSP_052296;Note=In isoform 2%2C isoform 3%2C isoform 4%2C isoform 5%2C isoform 6 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11577081,ECO:0000303|PubMed:147020 |
| Q8WXG6 | 1290 | 1310 | 1 | 1647 | Chain | ID=PRO_0000278138;Note=MAP kinase-activating death domain protein;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O08873 |
| Q8WXG6 | 1386 | 1423 | 1 | 1647 | Chain | ID=PRO_0000278138;Note=MAP kinase-activating death domain protein;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O08873 |
| Q8WXG6 | 1386 | 1423 | 1340 | 1415 | Domain | Note=Death;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8WXG6 | 1423 | 1459 | 1 | 1647 | Chain | ID=PRO_0000278138;Note=MAP kinase-activating death domain protein;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O08873 |
| Lost protein functional features of individual exon skipping events in Mayo. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q8WXG6 | 851 | 884 | 1 | 1647 | Chain | ID=PRO_0000278138;Note=MAP kinase-activating death domain protein;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O08873 |
| Q8WXG6 | 851 | 884 | 858 | 858 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q8WXG6 | 851 | 884 | 862 | 862 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q8WXG6 | 885 | 904 | 885 | 904 | Alternative sequence | ID=VSP_052294;Note=In isoform 3%2C isoform 5%2C isoform 6 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11577081,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:1548 |
| Q8WXG6 | 885 | 904 | 1 | 1647 | Chain | ID=PRO_0000278138;Note=MAP kinase-activating death domain protein;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O08873 |
| Q8WXG6 | 1121 | 1138 | 1121 | 1139 | Alternative sequence | ID=VSP_052295;Note=In isoform 2%2C isoform 3%2C isoform 4%2C isoform 5%2C isoform 6 and isoform 8. ELWNKHQEVKKQKALEKQR->G;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11577081,ECO:000030 |
| Q8WXG6 | 1121 | 1138 | 1 | 1647 | Chain | ID=PRO_0000278138;Note=MAP kinase-activating death domain protein;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O08873 |
| Q8WXG6 | 1290 | 1310 | 1291 | 1311 | Alternative sequence | ID=VSP_052296;Note=In isoform 2%2C isoform 3%2C isoform 4%2C isoform 5%2C isoform 6 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11577081,ECO:0000303|PubMed:147020 |
| Q8WXG6 | 1290 | 1310 | 1 | 1647 | Chain | ID=PRO_0000278138;Note=MAP kinase-activating death domain protein;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O08873 |
| Q8WXG6 | 1386 | 1423 | 1 | 1647 | Chain | ID=PRO_0000278138;Note=MAP kinase-activating death domain protein;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O08873 |
| Q8WXG6 | 1386 | 1423 | 1340 | 1415 | Domain | Note=Death;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8WXG6 | 1423 | 1459 | 1 | 1647 | Chain | ID=PRO_0000278138;Note=MAP kinase-activating death domain protein;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O08873 |
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3'-UTR located exon skipping events that lost miRNA binding sites in MADD |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for MADD |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for MADD |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
| ADstage | MSBB | IFG | exon_skip_77391 | 3.933112e-01 | 3.839509e-02 | chr11 | + | 47324471 | 47324577 | 47326738 | 47326807 | 47328658 | 47328704 |
| CDR | MSBB | IFG | exon_skip_77391 | 4.744000e-01 | 1.075398e-02 | chr11 | + | 47324471 | 47324577 | 47326738 | 47326807 | 47328658 | 47328704 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MADD |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for MADD |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM6 | exon_skip_144578 | -4.751226e-01 | 2.831476e-10 |
| CB | RBM3 | exon_skip_144578 | 4.184689e-01 | 4.462133e-08 |
| CB | HNRNPD | exon_skip_144578 | 4.739143e-01 | 3.185637e-10 |
| CB | TARDBP | exon_skip_279772 | 5.039365e-01 | 1.274757e-11 |
| CB | HNRNPF | exon_skip_279772 | 4.062059e-01 | 1.081265e-07 |
| CB | HNRNPA0 | exon_skip_293520 | 4.376718e-01 | 7.976085e-09 |
| CB | NUP42 | exon_skip_293520 | 4.939482e-01 | 3.682759e-11 |
| CB | RALYL | exon_skip_293520 | 6.715182e-01 | 3.414557e-22 |
| CB | SRSF9 | exon_skip_293520 | 4.632620e-01 | 7.800436e-10 |
| CB | HNRNPH2 | exon_skip_293520 | 4.494979e-01 | 2.789574e-09 |
| CB | EIF4B | exon_skip_293520 | 4.069279e-01 | 1.021494e-07 |
| CB | RALYL | exon_skip_77391 | -4.548144e-01 | 1.716650e-09 |
| CB | RBM3 | exon_skip_34000 | -4.856220e-01 | 9.971531e-11 |
| CB | TRA2A | exon_skip_34000 | 5.458205e-01 | 1.200967e-13 |
| CB | HNRNPA2B1 | exon_skip_34000 | 4.087549e-01 | 9.715817e-08 |
| CB | NUP42 | exon_skip_34000 | -5.406426e-01 | 2.258681e-13 |
| CB | RBM45 | exon_skip_178828 | 4.101983e-01 | 8.668454e-08 |
| DLPFC | EIF4B | exon_skip_186938 | 4.317710e-01 | 3.429340e-16 |
| DLPFC | RBM24 | exon_skip_207803 | 4.076396e-01 | 4.817128e-15 |
| DLPFC | SRSF2 | exon_skip_77391 | -4.480194e-01 | 3.073513e-18 |
| DLPFC | RC3H1 | exon_skip_77391 | -4.069112e-01 | 4.963842e-15 |
| DLPFC | KHDRBS2 | exon_skip_77391 | -6.603496e-01 | 4.455274e-44 |
| DLPFC | KHDRBS3 | exon_skip_77391 | -5.578534e-01 | 2.779482e-29 |
| DLPFC | RBM24 | exon_skip_77391 | -4.624641e-01 | 1.790168e-19 |
| DLPFC | ENOX1 | exon_skip_77391 | -4.901125e-01 | 5.245918e-22 |
| DLPFC | RALYL | exon_skip_77391 | -5.372721e-01 | 6.763845e-27 |
| DLPFC | PTBP3 | exon_skip_77391 | -4.077960e-01 | 4.278464e-15 |
| DLPFC | HNRNPL | exon_skip_77391 | -4.877363e-01 | 8.844178e-22 |
| DLPFC | CELF1 | exon_skip_77391 | -4.265337e-01 | 1.655415e-16 |
| DLPFC | EWSR1 | exon_skip_77391 | -4.283656e-01 | 1.191374e-16 |
| DLPFC | RC3H1 | exon_skip_293520 | 4.842987e-01 | 3.209164e-21 |
| DLPFC | HNRNPA0 | exon_skip_293520 | 4.266740e-01 | 2.426942e-16 |
| DLPFC | RALYL | exon_skip_293520 | 4.443247e-01 | 9.720743e-18 |
| DLPFC | PTBP3 | exon_skip_293520 | 4.079333e-01 | 6.051291e-15 |
| DLPFC | EIF4B | exon_skip_293520 | 5.600257e-01 | 3.248996e-29 |
| FL | SRSF2 | exon_skip_293520 | 5.552739e-01 | 6.353321e-17 |
| FL | MSI1 | exon_skip_293520 | -6.081122e-01 | 8.407166e-21 |
| FL | FXR2 | exon_skip_293520 | 5.606974e-01 | 2.730825e-17 |
| FL | RBM24 | exon_skip_293520 | 5.317730e-01 | 2.077472e-15 |
| FL | HNRNPA0 | exon_skip_293520 | 6.182471e-01 | 1.246893e-21 |
| FL | PUF60 | exon_skip_293520 | 4.357894e-01 | 2.655135e-10 |
| FL | RALYL | exon_skip_293520 | 6.354858e-01 | 4.120252e-23 |
| FL | PTBP1 | exon_skip_293520 | -4.856147e-01 | 9.378915e-13 |
| FL | SRSF9 | exon_skip_293520 | 4.768244e-01 | 2.716493e-12 |
| FL | HNRNPH2 | exon_skip_293520 | 6.056194e-01 | 1.330443e-20 |
| FL | EIF4B | exon_skip_293520 | 5.228584e-01 | 7.276681e-15 |
| FL | KHDRBS3 | exon_skip_77391 | -4.123122e-01 | 4.989917e-09 |
| FL | RALYL | exon_skip_77391 | -4.269939e-01 | 1.219248e-09 |
| HCC | MSI1 | exon_skip_186938 | -6.015628e-01 | 5.787826e-28 |
| HCC | DAZAP1 | exon_skip_293520 | -6.643091e-01 | 5.369364e-36 |
| HCC | MSI1 | exon_skip_293520 | -7.284123e-01 | 3.036228e-46 |
| HCC | SRSF11 | exon_skip_293520 | -6.280249e-01 | 3.013509e-31 |
| HCC | RBM5 | exon_skip_293520 | -6.804501e-01 | 2.491241e-38 |
| HCC | RC3H1 | exon_skip_293520 | -4.183965e-01 | 5.948037e-13 |
| HCC | PUF60 | exon_skip_293520 | -4.008312e-01 | 6.399479e-12 |
| HCC | PTBP1 | exon_skip_293520 | -7.882194e-01 | 7.238912e-59 |
| HCC | EWSR1 | exon_skip_293520 | -4.091454e-01 | 2.114881e-12 |
| HCC | RBM4B | exon_skip_207803 | -5.114623e-01 | 1.336262e-19 |
| HCC | TRNAU1AP | exon_skip_77391 | 4.799290e-01 | 4.471662e-17 |
| HCC | KHDRBS2 | exon_skip_77391 | -4.593789e-01 | 1.321746e-15 |
| HCC | KHDRBS3 | exon_skip_77391 | 5.103379e-01 | 1.925774e-19 |
| HCC | SRSF1 | exon_skip_77391 | 4.093464e-01 | 2.058242e-12 |
| IFG | RBM24 | exon_skip_293520 | 4.005490e-01 | 3.466735e-02 |
| IFG | NUP42 | exon_skip_293520 | 4.449630e-01 | 1.766224e-02 |
| IFG | RALYL | exon_skip_293520 | 4.052097e-01 | 3.242485e-02 |
| IFG | RBM24 | exon_skip_207803 | 5.219925e-01 | 6.233796e-03 |
| IFG | IGF2BP3 | exon_skip_77391 | 4.116598e-01 | 2.951573e-02 |
| IFG | KHDRBS3 | exon_skip_77391 | -6.279702e-01 | 3.466562e-04 |
| IFG | RALYL | exon_skip_77391 | -4.970516e-01 | 7.126217e-03 |
| PCC | MSI1 | exon_skip_293520 | -5.905342e-01 | 3.967040e-21 |
| PCC | SRSF11 | exon_skip_293520 | -4.752945e-01 | 3.113244e-13 |
| PCC | RALYL | exon_skip_293520 | 4.522050e-01 | 5.578613e-12 |
| PCC | PTBP1 | exon_skip_293520 | -7.482861e-01 | 6.205170e-39 |
| PCC | RALYL | exon_skip_77391 | -5.279028e-01 | 7.945917e-17 |
| PG | ILF2 | exon_skip_186938 | 4.049336e-01 | 7.494055e-09 |
| PG | SRSF2 | exon_skip_293520 | 4.310887e-01 | 7.459498e-09 |
| PG | MSI1 | exon_skip_293520 | -5.811792e-01 | 2.742278e-16 |
| PG | FXR2 | exon_skip_293520 | 5.775423e-01 | 4.626716e-16 |
| PG | RBM24 | exon_skip_293520 | 5.809397e-01 | 2.838964e-16 |
| PG | HNRNPA0 | exon_skip_293520 | 5.536667e-01 | 1.227627e-14 |
| PG | RALYL | exon_skip_293520 | 6.864398e-01 | 2.534829e-24 |
| PG | PTBP1 | exon_skip_293520 | -5.829593e-01 | 2.117864e-16 |
| PG | HNRNPH2 | exon_skip_293520 | 6.412957e-01 | 1.710775e-20 |
| PG | EIF4B | exon_skip_293520 | 4.044872e-01 | 7.112854e-08 |
| PG | KHDRBS2 | exon_skip_77391 | -4.767619e-01 | 4.089178e-10 |
| PG | KHDRBS3 | exon_skip_77391 | -5.176409e-01 | 6.221305e-12 |
| PG | RBM24 | exon_skip_77391 | -4.591547e-01 | 2.106736e-09 |
| PG | RALYL | exon_skip_77391 | -5.425007e-01 | 3.665919e-13 |
| PG | HNRNPL | exon_skip_77391 | -4.079773e-01 | 1.504929e-07 |
| STG | MSI1 | exon_skip_186938 | -4.067938e-01 | 1.015974e-04 |
| STG | MSI1 | exon_skip_293520 | -4.682612e-01 | 6.205772e-06 |
| STG | FXR2 | exon_skip_293520 | 5.413134e-01 | 8.840204e-08 |
| STG | RBM24 | exon_skip_293520 | 5.007756e-01 | 1.056075e-06 |
| STG | HNRNPA0 | exon_skip_293520 | 5.589086e-01 | 2.711027e-08 |
| STG | RALYL | exon_skip_293520 | 6.319469e-01 | 8.823019e-11 |
| STG | PTBP1 | exon_skip_293520 | -4.136699e-01 | 8.313536e-05 |
| STG | HNRNPH2 | exon_skip_293520 | 5.319831e-01 | 1.610545e-07 |
| STG | EIF4B | exon_skip_293520 | 4.529601e-01 | 1.343954e-05 |
| STG | KHDRBS3 | exon_skip_77391 | -5.426958e-01 | 1.989336e-07 |
| STG | RBM24 | exon_skip_77391 | -4.010806e-01 | 2.269263e-04 |
| STG | RALYL | exon_skip_77391 | -4.813535e-01 | 6.183639e-06 |
| STG | HNRNPL | exon_skip_77391 | -4.366695e-01 | 5.133409e-05 |
| STG | SRSF9 | exon_skip_77391 | -4.206765e-01 | 1.021864e-04 |
| TC | NUP42 | exon_skip_279772 | 4.492141e-01 | 3.607666e-09 |
| TC | RALYL | exon_skip_279772 | 6.327379e-01 | 6.130200e-19 |
| TC | ESRP1 | exon_skip_279772 | 4.698195e-01 | 5.378565e-10 |
| TC | MSI1 | exon_skip_155299 | -4.186040e-01 | 4.874402e-08 |
| TC | ILF2 | exon_skip_155299 | 5.210871e-01 | 2.623346e-12 |
| TC | NUP42 | exon_skip_155299 | 7.258178e-01 | 5.727212e-27 |
| TC | SRSF9 | exon_skip_155299 | 4.054569e-01 | 1.380749e-07 |
| TC | SRSF2 | exon_skip_191991 | 5.210719e-01 | 1.902519e-12 |
| TC | MSI1 | exon_skip_191991 | -4.127701e-01 | 6.415405e-08 |
| TC | FXR2 | exon_skip_191991 | 5.109404e-01 | 5.933716e-12 |
| TC | RBM24 | exon_skip_191991 | 8.039113e-01 | 2.931097e-37 |
| TC | HNRNPA0 | exon_skip_191991 | 7.409023e-01 | 6.151835e-29 |
| TC | NUP42 | exon_skip_191991 | 7.398324e-01 | 8.112245e-29 |
| TC | RALYL | exon_skip_191991 | 9.143792e-01 | 1.542842e-63 |
| TC | PTBP1 | exon_skip_191991 | -4.827067e-01 | 1.167404e-10 |
| TC | PTBP3 | exon_skip_191991 | 5.267737e-01 | 9.863907e-13 |
| TC | EWSR1 | exon_skip_191991 | 4.247287e-01 | 2.407318e-08 |
| TC | SRSF9 | exon_skip_191991 | 4.069643e-01 | 1.018560e-07 |
| TC | HNRNPH2 | exon_skip_191991 | 7.536867e-01 | 2.023430e-30 |
| TC | RBM24 | exon_skip_207803 | 7.647273e-01 | 8.921410e-32 |
| TC | SRSF2 | exon_skip_77391 | -4.427165e-01 | 5.120294e-09 |
| TC | KHDRBS2 | exon_skip_77391 | -8.077101e-01 | 7.409488e-38 |
| TC | KHDRBS3 | exon_skip_77391 | -7.147227e-01 | 3.709170e-26 |
| TC | RBM24 | exon_skip_77391 | -7.639021e-01 | 1.133218e-31 |
| TC | RALYL | exon_skip_77391 | -8.860877e-01 | 2.675907e-54 |
| TC | PTBP3 | exon_skip_77391 | -4.128162e-01 | 6.391670e-08 |
| TC | CELF1 | exon_skip_77391 | -5.558478e-01 | 2.838544e-14 |
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RelatedDrugs for MADD |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for MADD |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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